慢性腹膜透析患儿水通道蛋白-1基因多态性与腹膜功能的相关性

IF 2.6 3区医学 Q1 PEDIATRICS

Pediatric Nephrology Pub Date : 2025-09-25 DOI:10.1007/s00467-025-06959-z

Jiani Yao, Chunyan Wang, Xiaoyan Fang, Jing Chen, Zhiqing Zhang, Jiaojiao Liu, Jialu Liu, Rufeng Dai, Xiaotian Chen, Yihui Zhai, Hong Xu, Qian Shen

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引用次数: 0

摘要

背景：水通道蛋白（Aquaporins, AQPs）是一类跨膜运输水分子的蛋白，可促进细胞内的水运输。我们旨在探讨AQP1不同多态性与腹膜透析（PD）患儿腹膜功能的相关性。方法：选取2014年1月1日至2023年12月31日在复旦大学附属儿童医院接受PD治疗的患儿为研究对象。4个多态性的AQP1基因型分别为rs2075574 （TT、CT、CC）、rs1049305 （GG、CG、CC）、rs10253374 （TT、CT、CC）和rs17159702 （TT、CT、CC）。结果：共纳入187例慢性PD患儿。我们发现，TT组rs2075574的基线腹膜平衡试验（PET）超滤水平低于CC组（302±129比408±168 ml/m2， P = 0.015）。对于rs1049305， CC组的pKT/V高于GG组（2.71±1.25比2.27±0.79,P = 0.04）和CG组（2.71±1.25比2.24±0.88,P = 0.03）。随访12个月时，rs1049305 CC组（410±160 ml/m2, P = 0.04）和CG组（393±174 ml/m2, P = 0.04） PET超滤率高于GG组（239±288 ml/m2）。四种基因型与不良事件之间无显著相关性。结论：AQP1 rs2075574和rs1049305多态性可能与PD患儿的超滤和尿素转运有关。

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Correlation between polymorphisms of the aquaporin-1 gene and peritoneal function in children on chronic peritoneal dialysis.

Background: Aquaporins (AQPs) are a class of proteins that transport water molecules across membranes, which can promote water transport in cells. We aimed to explore the correlation between different polymorphisms of AQP1 and peritoneal function in children on peritoneal dialysis (PD).

Methods: Children who underwent PD at the Children's Hospital of Fudan University from January 1, 2014, to December 31, 2023, were included. The AQP1 genotypes of the four polymorphisms were rs2075574 (TT, CT, CC), rs1049305 (GG, CG, CC), rs10253374 (TT, CT, CC) and rs17159702 (TT, CT, CC).

Results: A total of 187 children on chronic PD were included in the study. We found that the TT group with rs2075574 exhibited a lower baseline peritoneal equilibration test (PET) ultrafiltration level than the CC group (302 ± 129 vs. 408 ± 168 ml/m², P = 0.015). For rs1049305, the CC group had a higher pKT/V than both the GG (2.71 ± 1.25 vs. 2.27 ± 0.79, P = 0.04) and CG groups (2.71 ± 1.25 vs. 2.24 ± 0.88, P = 0.03). Additionally, at 12-month follow-up, the CC (410 ± 160 ml/m², P = 0.04) and CG (393 ± 174 ml/m², P = 0.04) groups of rs1049305 showed higher PET ultrafiltration than the GG group (239 ± 288 ml/m²). No significant correlation was observed between the four genotypes and adverse events.

Conclusions: AQP1 rs2075574 and rs1049305 polymorphisms might be associated with ultrafiltration and urea transport in children with PD.

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来源期刊

Pediatric Nephrology 医学-泌尿学与肾脏学

CiteScore

4.70

自引率

20.00%

发文量

465

审稿时长

1 months

期刊介绍： International Pediatric Nephrology Association Pediatric Nephrology publishes original clinical research related to acute and chronic diseases that affect renal function, blood pressure, and fluid and electrolyte disorders in children. Studies may involve medical, surgical, nutritional, physiologic, biochemical, genetic, pathologic or immunologic aspects of disease, imaging techniques or consequences of acute or chronic kidney disease. There are 12 issues per year that contain Editorial Commentaries, Reviews, Educational Reviews, Original Articles, Brief Reports, Rapid Communications, Clinical Quizzes, and Letters to the Editors.